Sorry for the delay in writing updates! We've had a lot of appointments the past few weeks, and I've finally had a chance to sit down and write. I'll try to keep it is a brief as possible without leaving out important information. I also want to warn you that some of the updates involve information about constipation and how the digestive system works. Sorry if it makes any squeamish, but for those reading the blog looking for information related to their own health, those details are pertinent. So on October 2nd, the day finally arrived when one of our daughters had the opportunity to meet and be evaluated by the geneticist that specializes in Ehlers-Danlos Syndrome (EDS). Our oldest two daughters have been on the wait list to see him since March 2016, which puts us at 19 months of waiting. We were expecting to wait for 2 years and were so relieved when her GI motility specialist reached out to the geneticist and got her appointment scheduled so quickly. Yet, now that the day was finally here, I was a nervous wreck. So much has been hinging on this appointment, and so many of the girls' other doctors and specialists have been waiting for this evaluation too. As I was driving the 90 minutes to get to the appointment, all I could think of was how much I hoped he would provide help, answers, and confirmation that our 5-year-old daughter, A, also has Ehlers-Danlos Syndrome. So you can imagine my surprise when, after taking a full medical history on myself and all three of my daughters, the geneticist says, "Well, I wish I was comfortable saying that this was only EDS and that I could fully manage your family's care, but unfortunately I don't feel comfortable saying that at this time." He believes that there may be a bigger diagnosis that would encompass the constellation of symptoms and disorders that the 3 girls have. He's wondering if there is a neurological condition or possibly a mitochondrial disorder, as hypermobility can be caused by other syndromes and disorders. Yikes! That completely caught me off guard. I was expecting this appointment to be either a slam dunk, or like many other appointments, to be let down, dismissed or sent back to the drawing board. Sometimes, when doctors don't have the answers, they send you on your way without any direction or feedback. I've left those appointments feeling defeated, confused and in tears. So I was completely surprised when this appointment took a turn the other way, and he suggested that there is more going on medically that we originally thought. However, when discussing my medical history and symptoms, the geneticist said that it sounded like I have a typical case of EDS. How can that be, but the girls have more? On one hand, I was pleased that he was listening and validated our concerns. On the other hand, I was scared. The fear of the unknown is worse than the fear of the known, at least for me. Or as they say, "Better the devil you know, than the devil you don't know." I guess time will tell, and my questions will have to be answered in about 8 weeks time when we get the genetic test results. He said he would be happy to see our other girls if needed, but that we should wait until the results come back to determine the best treatment plan for our family. In other news, we had a few other appointments over past couple weeks. Our 8-year-old daughter, E, and our 4-year-old daughter, C, were at the hospital to have their clinic appointments with the GI, allergist and nutritionist on October 6th. It's nice to be able to have 6 appointments scheduled together and for the doctors to be able to collaborate. Yet, it also makes for a really long day, leaving the house at 8:00 am and returning by 2:30 pm. So the highlights from those appointments include that both girls continue to be constipated and in need of a bowel clean out. So for 3 days total that weekend, we completed clean outs for all 3 girls, which is never a pleasant experience and requires us to be home bound and missing out/cancelling a lot of activities. The GI added senna to C's medications for the next 2 weeks in hopes of keeping her digestive system moving. We also discussed with the GI and allergist how much C has been coughing, both when running or exerting herself and when drinking fluids. So the GI ordered a video flouroscopic swallow study to rule out aspiration when drinking and the allergist prescribed a rescue inhaler, Albuterol, to use as needed when she has trouble breathing and coughing when exercising or before exerting herself. Additionally, we were advised to stop the peanut butter trial for C for now, since it was causing abdominal pain. We will retest her food allergies in the winter when she is able to stop taking her antihistamines for 5 days prior to the skin allergy test. At that time, we hope to be able to trial foods that were previously triggers and that she is hopefully outgrowing. Then on October 11th, we had 2 important follow-up appointments with the motility specialist and the urologist. This was another very long day as we left the house at 8:45 am to drop off the girls at school, drove to the far north suburbs for the motility specialist appointment, got home around 3:00 pm, picked up the girls from the babysitter and school, had ABA therapy, ate a quick dinner, and then left for the urology appointment at 5:45 pm to get there in time for the 6:40 pm appointment. We didn't arrive back home until 8:00 pm. While these appointments are very important, the days are long and exhausting for all those involved. It also requires asking friends for help with getting kids to and from school, hiring a babysitter to pick up our preschooler and care for her, and for my husband to come home early from work to take over ABA therapy session, help them with homework, and finish the nightly routines before bedtime. I'm grateful for everyone's help, but wish our days weren't so complicated. I long for a simpler life... maybe someday. So first was the follow-up appointment with the motility specialist to go over the 3 motility tests that A, our 5-year-old, had done over the past month, which included the SITZ marker study, the water soluble contrast enema, and the Anorectal manometry test. The SITZ marker study showed that all the markers had been passed, but that there was still a lot of stool in her colon. Thankfully, the contrast enema test was also normal. So that means that her colon is not stretched out, which is surprising but also great news. Finally, the anorectal manometry test revealed that the muscle control in her rectum is abnormal and that she is contracting those muscles instead of relaxing them during an attempted bowel movement. This is likely due to her long history of severe constipation and pain. Her body has adapted to the pain and discomfort. So the recommended treatment is pelvic floor biofeedback therapy to address the pelvic floor dyssynergia. Furthermore, he increased her senna dosage and referred her to the multi-disciplinary bowel management program at the local children's hospital. This team includes the GI motility specialist, a pediatric surgeon, a social worker or psychologist and a nutritionist. That evening, our 4-year-old daughter, C, had her follow-up appointment with the urologist to review the results from the abdominal x-ray, abdominal ultrasound and the spinal MRI. Prior to this appointment, we had received a call from the neurosurgeon that the brain MRI showed a stable pineal cyst (see the post called My 12-hour adventure with "C" for more information), that the spinal MRI was normal, and no tethered spinal cord was noted. While this sounds like good news, it means further evaluation to identify why she's having current symptoms. However, the urologist did share this ultrasound photo with me, which shows C's bladder. He pointed out how her rectum is so full of stool that it is pushing into her bladder in an extreme way. He actually said to me that looking at that photo made him feel like he had to urinate (insert humor), but that in all seriousness, that it looks extremely uncomfortable. It was technically an obstruction and was blocking the elimination of stool and air in her entire colon. So that definitely explains why she has such severe abdominal pain on a weekly, sometimes daily, basis. He recommended that she continue the senna her GI prescribed for the next 3 months to keep her digestive system moving and cleaned out. Hopefully, the bladder symptoms will improve. We follow up with the urologist in 3 months, and she how she's doing. Thank you all for reading and for your support! Please feel free to leave comments or questions below, or contact me directly. It's always nice to hear from you!
Our 5-year-old daughter, A, completed all three motility tests that the GI specialist ordered back in August. Read more about them on my post dated 8/26/17. The first was the SitzMarker test, which required her to swallow all of these circle "SitzMarkers" (see photos above). Since she can't swallow a whole pill, we had to empty them and put 1 - 2 markers in spoonful of yogurt until all 26 markers were swallowed. That was challenging, but she did it! Then on Day #5, which was August 30th, she had to get an abdominal x-ray to see if the markers were still in her system or if they had passed. None were seen on x-ray. I suspect that she passed them all the morning of the x-ray, since it was the first bowel movement since swallowing them. Next, on September 20th, she had the contrast enema. As you can probably guess, that was no fun at all. The technician and doctor had to insert the enema, deliver 1500 ml of contrast solution into her colon, and then take x-rays to study her anatomy. When they were done the contrast was drained and we were on our way. While it was a very challenging test for A, at least it was done quickly! On September 27th, she went to the local children's hospital for the third of three GI motility tests that were ordered, the anorectal manometry. The was an exam that not only required her to fast after midnight the night before, but we also had to administer 2 enemas at home. One was done the night before, and the other was done the next in the morning before we left for the hospital. I'll spare you the details, but I'm sure you can imagine how unpleasant that was for all involved. We were exhausted by the time we got in the car that morning at 8:45 am. After a dropping the other two girls off at school and a long drive in to the city, we arrived just in time for the test at 10:30 am. I was so glad we made it in time, but in the end, we waited 3 more hours for the test to actually begin! A was a trooper considering all she had to go through. They gave her a little Versed to sedate her enough to administer the test, but to keep her awake to participate when they needed her to answer their questions or to squeeze or relax her muscles. Thank goodness for the Versed and for the Child Life Specialist that sat with her throughout the entire test in the operating room while I couldn't be with her. She was a rock star and the test was successfully completed. In the recovery room, they monitored her while she drank some water and ate a popsicle. You can see in the photo above how happy she was about the orange popsicle and the toy they gave her. The doctor met with me briefly after the test. He said he would analyze the test further, but he observed that the muscles in her rectum weren't contracting and relaxing properly. This could be a piece of the puzzle and is also similar to the sphincter issues she has when urinating. We will find out more information and the next steps at her follow up appointment on October 11th. After each of the last two tests, A requested McDonald's french fries. How could I say no, especially after she had gone all day, both days, without eating? She deserved those fries and the Happy Meal prize. Look at that smile!
Stay tuned for more updates soon. Our 4-year-old daughter, C, had her two MRIs last week, and yesterday A finally had the long-awaited geneticist appointment! I'll be writing more as soon as I get a chance. Thanks for reading and all your support! Well, as I launch my blog today, I know that there is a great deal of background that may be needed for those who don't know our family very well, and I will get to that soon. For today, I'm going to jump right in to our journey and tell you all about the wonderful experience we had with A's new motility specialist. (In the interest of privacy for our daughters, I will only refer to them by their first initial.) A, our middle daughter and currently 5 years old, was referred to this specialist because she has had chronic, severe constipation since she was an infant. She has seen a total of 3 GIs over the years, and is currently maxed out on the dosages of her 4 constipation medications, yet still deals with constipation. Her current GI has recommended that our next steps would either be to see a motility specialist for motility testing or to consider the MACE procedure.
So August 22nd, we went to the local children's hospital with A to meet "Dr. F", who is fairly new to the area. Previously, Chicago did not have a motility specialist and our oldest daughter, E, who is currently 8 years old, had to travel to Milwaukee in February 2016 for the same type of specialist and testing. So we were thrilled when our GI and urologist told us there was a new doctor here in Chicago. Luckily, our urologist is with the same children's hospital, made the referral, and got us an appointment in only 2 months (he is booking out appointments several months ahead typically). Great news, except E also had an appointment that same day at exactly the same time to have her G tube button changed out at our other favorite hospital across town. Neither appointment could be rescheduled without waiting 3-4 more months. So my husband took the day off from work and brought E to her G tube appointment. These complications in our schedule often arise, and I'm thankful that my husband is able to help like this occasionally. I'm also happy to report that E was amazingly brave with the G tube change... no tears and 3 more months to go before the next change! So back at the motility appointment with A, we met with Dr. F for about an hour in total. He took his time getting all the history and background, read through all the referral notes and medical records, and asked lots of questions. Dr. F was kind, compassionate, very knowledgeable, and had a wonderful bedside manner. He has experience with children on the autism spectrum and was understanding of the limitations we face daily. He assured me he wouldn't suggest anything that would not be practical for us and our daughter (i.e. no daily enemas! LOL!). When we got to the part of her medical history where I mentioned that I have Ehlers-Danlos Syndrome (EDS), that her doctors suspect that she may have it as well, and that we are on a 2-year waitlist to see the geneticist that specializes in EDS, he surprised me with the most wonderful news! He knows and works with this very same geneticist, and together they have treated many patients with EDS! I know the average person won't quite understand how amazing this actually is, but to put it in perspective, most doctors have not even heard of EDS. Yet this geneticist specializes in EDS, is a world-wide expert in this field, and was heading the committee that just published the new EDS diagnostic criteria and several research articles! So this was like hitting the jackpot for our family and an answer to my daily prayers! After Dr. F finished taking all the history, completing the physical examination, and determining her Beighton score for hypermobility, he was in agreement that further GI motility testing is needed, and that she should definitely see the geneticist sooner than later. Her Beighton Score was a 7 out of 9, which is a positive indicator for joint hypermobility, and one of the diagnostic criteria for Ehlers-Danlos Syndrome. So Dr. F wrote a personal referral note to the EDS geneticist and sent it while we were still at our appointment. He said that the two doctors will often do each other favors when referring patients to one another, and that it will hopefully get her an appointment sooner. Fingers crossed, as we have been on the waitlist since March of 2016! In the meantime, Dr. F ordered three motility tests for A: 1. SITZ marker study, while on medications 2. Water soluble contrast enema to assess colonic caliber 3. Anorectal manometry He will likely consider future colonic manometry testing, pending the results of the first three tests. Overall, we were very pleased with the outcome of the appointment and have hope again that we are on the right path to finding answers and a treatment plan. Stay tuned for updates on the testing! Thanks for reading and have a great day! |
AuthorHi, I'm Rebekah! I'm a wife, architect, teacher and mother to 3 amazing daughters! Thanks for stopping by my blog, RAISING ZEBRAS! Archives
February 2018
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